Variant report

Variant	esv3370015
Chromosome Location	chr1:192351344-192368152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:192364251..192366273-chr1:192371276..192373537,2	K562	blood:
2	chr1:192362224..192364335-chr1:192367712..192370018,2	K562	blood:
3	chr1:192344743..192346250-chr1:192353971..192356636,2	K562	blood:
4	chr1:192362224..192364335-chr1:192367712..192370018,2	K562	blood:
5	chr1:192353018..192355468-chr1:192363241..192364892,2	K562	blood:
6	chr1:192356695..192359398-chr1:192364454..192366779,3	K562	blood:
7	chr1:192353018..192355468-chr1:192363241..192364892,2	K562	blood:
8	chr1:192344215..192347684-chr1:192348226..192352405,4	K562	blood:
9	chr1:192356695..192359398-chr1:192364454..192366779,3	K562	blood:

No data

Extended variants
information (count: 304 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190909565	chr1:192355410-192355411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182736820	chr1:192355414-192355415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560531549	chr1:192355449-192355450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10158919	chr1:192355560-192355561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534540502	chr1:192355618-192355619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553867401	chr1:192355632-192355633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188156683	chr1:192355659-192355660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544980179	chr1:192355671-192355672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539517557	chr1:192355677-192355678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144352220	chr1:192355678-192355679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376445943	chr1:192355680-192355681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199635539	chr1:192355681-192355682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556695756	chr1:192355687-192355688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78945922	chr1:192355699-192355700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574058958	chr1:192355701-192355702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572100695	chr1:192355716-192355717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542406946	chr1:192355730-192355731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192893012	chr1:192355735-192355736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182526929	chr1:192355743-192355744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187524028	chr1:192355770-192355771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139954483	chr1:192355779-192355780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542343571	chr1:192355784-192355785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532946208	chr1:192355800-192355801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372966061	chr1:192355815-192355816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192045016	chr1:192355870-192355871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563036922	chr1:192355881-192355882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184976343	chr1:192355905-192355906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561079883	chr1:192355947-192355948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74130609	chr1:192356078-192356079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532443882	chr1:192356087-192356088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568675761	chr1:192356150-192356151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531403559	chr1:192356159-192356160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376232110	chr1:192356179-192356180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548088067	chr1:192356210-192356211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570706904	chr1:192356286-192356287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539848646	chr1:192356336-192356337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531371940	chr1:192356358-192356359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141864415	chr1:192356374-192356375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190577911	chr1:192356393-192356394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371426597	chr1:192356399-192356400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570159797	chr1:192356416-192356417	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553416045	chr1:192356443-192356444	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550856128	chr1:192356449-192356450	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55971636	chr1:192356478-192356479	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58181463	chr1:192356483-192356484	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80055767	chr1:192356537-192356538	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555256098	chr1:192356574-192356575	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75050667	chr1:192356598-192356599	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571516845	chr1:192356670-192356671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192436958	chr1:192356712-192356713	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192355400-192356400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:192356200-192357000	Enhancers	Dnd41	blood
3	chr1:192356400-192356800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:192356600-192356800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:192356800-192357800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:192357800-192359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:192358600-192359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:192359400-192361200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:192359600-192360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:192360600-192361800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:192360800-192361200	Enhancers	Dnd41	blood
12	chr1:192361200-192361400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:192364000-192364800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr1:192364400-192365600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:192364400-192365600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:192365000-192365400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:192367600-192368800	Enhancers	Fetal Intestine Large	intestine

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